Background

The genetic basis of melanoma affects its clinicopathologic characteristics and increasingly influences its management. B-Raf proto-oncogene, serine/threonine kinase gene (BRAF)-mutated melanoma may present with specific dermoscopic features.

Objectives

To identify the dermoscopic features associated with BRAF mutation in cutaneous melanoma and to evaluate a model capable of predicting BRAF mutations on the basis of dermoscopic and clinicopathologic features that are easily accessible in normal clinical practice.

Methods

A prospective, cross-sectional, observational, and descriptive study was performed. A total of 93 cutaneous melanomas with dermoscopic images from 93 patients were included. BRAF mutational status was determined by genetic analysis using 2 methods: cobas 4800 BRAF V600 Mutation Test (Roche Molecular Systems, Pleasanton, CA) and Sanger sequencing. Clinicopathologic data were collected; dermoscopic images were analyzed by 2 independent blind observers.

Results

Blue-white veil in dermoscopy was significantly associated with BRAF mutations (odds ratio, 4.3; 95% confidence interval, 1.6-11.5; P = .003). Patients with BRAF-mutated melanomas were significantly younger than those with wild-type melanomas (odds ratio, 0.96; 95% confidence interval, 0.93-0.99; P = .008). On the basis of these 2 variables, it was possible to predict BRAF mutational status in melanoma with 73% accuracy.

Limitations

Histologic data were obtained from pathology reports. The accuracy of the predictive model has not been tested with a new data set.

Conclusions

Blue-white veil in dermoscopy is associated with BRAF mutations in cutaneous melanoma.

中文翻译：

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皮肤黑色素瘤的皮肤镜特征与BRAF突变状态之间的关联：蓝白色面纱的意义

背景

黑色素瘤的遗传基础影响其临床病理特征，并越来越影响其管理。B-Raf原癌基因，丝氨酸/苏氨酸激酶基因（BRAF）突变的黑色素瘤可能具有特定的皮肤镜特征。

目标

鉴定与皮肤黑素瘤中的BRAF突变相关的皮肤镜特征，并评估能够在正常临床实践中容易获得的皮肤镜和临床病理学特征基础上预测BRAF突变的模型。

方法

进行了一项前瞻性，横断面，观察性和描述性研究。总共纳入了93例皮肤镜检查的93例皮肤黑色素瘤。使用2种方法通过遗传分析确定BRAF突变状态：cobas 4800 BRAF V600突变测试（Roche Molecular Systems，Pleasanton，CA）和Sanger测序。收集临床病理资料；由2位独立的盲人观察者对皮肤镜图像进行分析。

结果

皮肤镜检查中的蓝白色面纱与BRAF突变显着相关（比值比为4.3； 95％置信区间为1.6-11.5；P  = 0.003）。患有BRAF突变的黑色素瘤的患者比野生型黑色素瘤的患者年轻得多（优势比为0.96； 95％置信区间为0.93-0.99；P  = 0.008）。基于这两个变量，有可能以73％的准确度预测黑色素瘤中的BRAF突变状态。

局限性

组织学数据是从病理报告中获得的。尚未使用新的数据集测试预测模型的准确性。

结论

皮肤镜检查中的蓝白色面纱与皮肤黑色素瘤中的BRAF突变有关。